Canonical Allele Identifier: CA341752270

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226829A>C (hg19) ; chr1:g.114684208A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684208A>C , CM000663.2:g.114684208A>C	GRCh38
NC_000001.10:g.115226829A>C , CM000663.1:g.115226829A>C	GRCh37
NC_000001.9:g.115028352A>C	NCBI36
NG_008012.1:g.16348T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.526T>G	ENSP00000358551.4:p.Phe176Val
ENST00000520113.7:c.538T>G MANE Select	ENSP00000430075.3:p.Phe180Val
ENST00000637080.1:c.541T>G	ENSP00000489753.1:p.Phe181Val
ENST00000639077.1:n.203T>G
ENST00000369538.3:c.625T>G	ENSP00000358551.3:p.Phe209Val
ENST00000485564.3:n.412T>G
ENST00000520113.6:c.637T>G	ENSP00000430075.2:p.Phe213Val
NM_000036.2:c.637T>G	NP_000027.2:p.Phe213Val
NM_001172626.1:c.625T>G	NP_001166097.1:p.Phe209Val
NM_000036.3:c.538T>G MANE Select	NP_000027.3:p.Phe180Val
NM_001172626.2:c.526T>G	NP_001166097.2:p.Phe176Val